500 - Deep Brain Stimulation for Pediatric Anoctamin 3 (ANO3) Associated Dystonia: A Case Report

Friday, February 20, 2026

5:00 PM - 6:30 PM AST

Presenting Author(s)

HV

Huu T. Vo, MD

Resident Physician
University of Texas at Austin, Dell Medical School
Austin, Texas, United States
JH

Jeremy Holden, DO

Resident Physician
Dell Medical School
Austin, Texas, United States

Co-Author(s)

GB

Glendaliz Bosques, MD

Associate Professor
Dell Medical School at University of Texas in Austin
Austin, Texas, United States

Submitter(s)

HV

Huu T. Vo, MD

University of Texas at Austin, Dell Medical School
Austin, Texas, United States

Case Diagnosis: A pediatric patient with anoctamin 3 (ANO3) associated dystonia with progressive functional decline requiring treatment with bilateral globus pallidus internus deep brain stimulation.

Case Description: A 10 year old male with no prior medical history presented with progressive, predominantly left sided weakness and dystonia beginning at age 7, initially manifesting as toe walking and painful posturing. Over time, he developed dropped head syndrome, gait impairment, and scoliosis, resulting in loss of functional independence and withdrawal from school. Extensive neurologic workup, including MRI, EEG, and LP, were unremarkable. He demonstrated partial, inconsistent response to carbidopa-levodopa, and required inpatient rehabilitation and botulinum toxin injections. Genetic testing revealed an ANO3 mutation, consistent with autosomal-dominant craniocervical dystonia. Given persistent severe posturing and impaired activities of daily living despite maximal medical management and rehabilitative therapy, he underwent bilateral globus pallidus internus (GPi) DBS placement at age 9.

Discussions: This case highlights the difficulties in managing pediatric ANO3 related dystonia, a disorder characterized by early onset progressive craniocervical involvement with significant functional disability. While levodopa and botulinum toxin may offer partial symptomatic relief, this patient’s refractory course necessitated surgical intervention. DBS has been applied in a small number of ANO3 cases, including pediatric patients, with variable but encouraging outcomes. This case contributes to the limited literature supporting the role of DBS in severe, treatment refractory pediatric dystonia due to ANO3 mutations, and highlights the importance of multidisciplinary care and early recognition of progressive disability.

Conclusions: DBS may provide a promising treatment option for severe, refractory pediatric dystonia due to ANO3 mutations. It adds to a growing body of evidence supporting DBS as a therapeutic consideration in this rare population. Early recognition of disease progression and multidisciplinary care are essential in optimizing outcomes. Further research is needed to define long term efficacy and patient selection criteria.